Graefe’s Arch Clin Exp Ophthalmol

(2003) 241:161–163 S H O R T C O M M U N I C AT I O N
DOI 10.1007/s00417-002-0619-z

Randolf A. Widder A case of angle-closure glaucoma,

Bert Engels
Maria Severin cataract, nanophthalmos and spherophakia
Richard Brunner
Günter K. Krieglstein in oculo-dento-digital syndrome

Received: 18 February 2002
Revised: 14 November 2002
Accepted: 20 November 2002
Published online: 25 January 2003
© Springer-Verlag 2003
R. A. Widder (✉) · B. Engels
M. Severin · R. Brunner · G. K. Krieglstein
Zentrum für Augenheilkunde
der Universität zu Köln,
50924 Cologne, Germany
e-mail: randolf.widder@netcologne.de
Tel.: +49-221-4786044
Fax: +49-221-4784347
Abstract Background: We report a
new case of oculo-dento-digital syn-
drome. Methods: Case report.
Results: We saw a 34-year-old
women with oculo-dento-digital syn-
drome. Visual acuity was no percep-
tion of light (RE) and 1/35 (LE).
Biomicroscopy revealed a flat anteri-
or chamber and an advanced cata-
ract. The intraocular pressure (IOP)
was 60 mmHg in both eyes. Ultra-
sonographic biomicroscopy demon-
strated a closed chamber angle in
both eyes. Measurements of the axial
length and of the diameter of the lens
were 18.7 mm/6.0 mm for the RE
and 18.7 mm/5.8 mm for the LE
respectively. In the time following
we conducted a cyclodestructive pro-
cedure in the RE and a cataract ex-
traction with implantation of an in-
traocular lens in the LE. This led to
a considerable reduction of the IOP
in the RE and combined with local
therapy to IOP regulation in the LE.
Conclusion: In this patient nanoph-
thalmos, cataract and spherophakia
led to angle-closure glaucoma in
both eyes. We recommend early
monitoring of IOP, axial length and
lens diameter. This case demon-
strates that an early cataract extrac-
tion might beneficially influence the
natural course of the disease.

Introduction Case report

Oculo-dento-digital syndrome or Meyer-Schwickerath–
Weyers syndrome is a rare disease which was first de-
scribed as a clinical entity by Meyer-Schwickerath,
Grüterich and Weyers in 1957 [8]. They stressed three
features their four patients had in common. The main
feature was microphthalmos. Other features were syn-
dactyly of the fourth and fifth fingers and defects of den-
tal enamel. All patients showed a striking unique appear-
ance with small nasal alae and anteverted nostrils. The
occurrence of glaucoma is known but the mechanisms
show a heterogeneous pattern. In the literature patients
with open-angle glaucoma, angle-closure glaucoma and
chamber angle dysplasia are described [1, 5, 8, 12, 13].
Little is known about the natural course in patients with
glaucoma.
A 34-year-old women was referred to our department with the di-
agnosis of oculo-dento-digital syndrome and glaucoma. She com-
plained about a deterioration of visual acuity in the past 2 years.
Her face showed the typical appearance of oculo-dento-digital
syndrome with small nasal alae and anteverted nostrils (Fig. 1). In
her youth she had undergone surgery for syndactylies of the 4th
and 5th fingers (Fig. 2). Her teeth had been extracted because of
enamel dysplasia. She revealed a normal body shape, and other
features such as complete epicanthal folds or skeletal changes
were not noted. Visual acuity was perception of light in the right
eye and 1/35 in the left eye. The corneal diameter was 6 mm in
both eyes. Slit-lamp examination revealed a flat anterior chamber,
a closed chamber angle and an advanced cataract. The intraocular
pressure (IOP) was 50/45 mmHg under local therapy with miotic
eye drops while the optic nerve head showed a pale appearance
with a deep glaucomatous cupping. Ultrasonographic biomicros-
copy (50 MHz, UBM 840, Zeiss-Humphrey) demonstrated a
closed chamber angle in both eyes as well as a hypoplastic ciliary
body (Fig. 3). Measurements of the axial length and of the diame-
ter of the lens were 18.7 mm/6.0 mm for the right eye and
18.7 mm/5.8 mm for the left eye. For personal reasons the patient
could not be hospitalized. Two months later we saw her again with
162
Fig. 1 The typical appearance of oculo-dento-digital syndrome
with small nasal alae and anteverted nostrils
Fig. 2 In her youth the patient
had undergone surgery for
syndactylies of the 4th and
5th fingers
an IOP of 60 mmHg in both eyes and no perception of light in the
right eye. We then conducted a cyclodestructive procedure in the
right eye, assuming that the procedure would trigger an IOP re-
duction despite the atrophic ciliary body. In the left eye a cataract
extraction with implantation of an intraocular lens (Morcher Type
65C, Stuttgart; sulcus fixation) was performed. This led to a con-
siderable reduction of the IOP in the right eye and was combined
with local therapy for IOP regulation in the left eye.
Discussion
In view of the typical appearance of our patient and the
presence of microphthalmos, syndactylies of the forth
Fig. 3 Ultrasonographic biomicroscopy demonstrated a closed
chamber angle in both eyes as well as a hypoplastic ciliary body
and fifth fingers and dental dysplasia we assigned the
diagnosis of oculo-dento-digital syndrome [1]. About
50 individual cases are described in the literature as well
as 42 members of a single family in eastern Europe [1, 5,
9, 13]. These cases were reported by various medical
specialties and therefore the description of the patients
with regard to ophthalmological features is incomplete.
Oculo-dento-digital syndrome is regarded as an inherited
disorder in an autosomal dominant fashion with variable
expression. Additionally a high rate of de novo muta-
tions is observed [4]. Our patient denied any affection of
her relatives, but the family data were incomplete.
 163

Meyer-Schwickerath and coworkers reported mi-
crophthalmos as the main feature of the disease as indi-
cated by the title of their report: microphthalmos syn-
dromes. However it remains unclear whether the pa-
tients show microcornea or microphthalmos. The axial
eye length was rarely measured in the published studies
and when recorded ranged from 20.8 to 26.2 mm. The
interpretation of these findings is difficult because of
the high variation in equipment and in measurement
methods in different laboratories. In the seven patients
whose axial eye length was measured there were no
values below 20 mm was found but some of them might
be considered as nanophthalmic eyes [1, 3, 5, 10]. No
additional data describing the lens diameter are known.
Our measurements suggest a nanophthalmic eye with
spherophakia in our patient. A hypertrophy of the ciliary
body with subsequent relaxation of the zonules is dis-
cussed as the cause of spherophakia [6, 8]. However,
ultrasonographic biomicroscopy revealed a hypoplastic
ciliary body in our patient. A hypoplastic ciliary body
was also found by Dietlein and coworkers using ultra-
sonographic biomicroscopy in a patient with brachy-
dactyly and spherophakia [2]. These and our findings
may fit well with the observations of Vogt, who inter-
preted spherophakia as a sequela of incomplete develop-
ment of the ciliary body. He postulated that the fetal
lens remains in its spherical shape through a lack of
tension.
Glaucoma is often mentioned as a characteristic fea-
ture of oculo-dento-digital syndrome and follows a het-
erogeneous pattern, including trabeculodysgenesis-related
glaucoma, open-angle glaucoma and angle-closure glau-
coma [4, 13]. The latter was described by Sugar in two
patients, and Meyer-Schwickerath and coworkers also
mentioned a patient with a narrow chamber angle and
highly elevated IOP. Measurement of IOP in patients with
microcornea leads to various problems using Goldmann
applanation or Schiötz tonometry. To achieve exact val-
ues an intraocular IOP measurement device seems neces-
sary. In our patient, however, the highly elevated pressure
was obvious. Goldmann and Schiötz tonometry were in
the same range and fitted the estimates gained by digital
evaluation. In our patient a closed chamber angle was
seen at slit-lamp examination and ultrasonographic bio-
microscopy. Probably the critical lens–eye length ratio
led to a flattening of the anterior chamber with anterior
synechiae and closure of the chamber angle [12]. There-
fore we recommend early monitoring of IOP, axial length
and lens diameter in these patients. In view of the diffi-
culty of obtaining reliable IOP measurements in these pa-
tients, functional and morphological parameters such as
optic disc cupping have to be given careful consideration.
This case demonstrates that an early cataract extrac-
tion might beneficially influence the natural course of
the disease, which, as seen in our patient’s other eye, can
be devastating.

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